Search | VHL CLAP/WR-PAHO/WHO

1.

Prognostic factors among patients with Shiga toxin-producing Escherichia coli hemolytic uremic syndrome: A retrospective cohort study using a nationwide inpatient database in Japan.

Myojin, Shota; Michihata, Nobuaki; Shoji, Kensuke; Takanashi, Jun-Ichi; Matsui, Hiroki; Fushimi, Kiyohide; Miyairi, Isao; Yasunaga, Hideo.

J Infect Chemother ; 29(6): 610-614, 2023 Jun.

Article in English | MEDLINE | ID: mdl-36871823

2.

Prenatal clinical manifestations in individuals with COL4A1/2 variants.

Itai, Toshiyuki; Miyatake, Satoko; Taguri, Masataka; Nozaki, Fumihito; Ohta, Masayasu; Osaka, Hitoshi; Morimoto, Masafumi; Tandou, Tomoko; Nohara, Fumikatsu; Takami, Yuichi; Yoshioka, Fumitaka; Shimokawa, Shoko; Okuno-Yuguchi, Jiu; Motobayashi, Mitsuo; Takei, Yuko; Fukuyama, Tetsuhiro; Kumada, Satoko; Miyata, Yohane; Ogawa, Chikako; Maki, Yuki; Togashi, Noriko; Ishikura, Teruyuki; Kinoshita, Makoto; Mitani, Yusuke; Kanemura, Yonehiro; Omi, Tsuyoshi; Ando, Naoki; Hattori, Ayako; Saitoh, Shinji; Kitai, Yukihiro; Hirai, Satori; Arai, Hiroshi; Ishida, Fumihiko; Taniguchi, Hidetoshi; Kitabatake, Yasuji; Ozono, Keiichi; Nabatame, Shin; Smigiel, Robert; Kato, Mitsuhiro; Tanda, Koichi; Saito, Yoshihiko; Ishiyama, Akihiko; Noguchi, Yushi; Miura, Mazumi; Nakano, Takaaki; Hirano, Keiko; Honda, Ryoko; Kuki, Ichiro; Takanashi, Jun-Ichi; Takeuchi, Akihito.

J Med Genet ; 58(8): 505-513, 2021 08.

Article in English | MEDLINE | ID: mdl-32732225

3.

Panton-Valentine leukocidin-positive novel sequence type 5959 community-acquired methicillin-resistant Staphylococcus aureus meningitis complicated by cerebral infarction in a 1-month-old infant.

Oshima, Nozomu; Hamada, Hiromichi; Hirose, Shoko; Shimoyama, Kyohei; Fujimori, Makoto; Honda, Takafumi; Yasukawa, Kumi; Ishiwada, Naruhiko; Ohkusu, Misako; Takanashi, Jun-Ichi.

J Infect Chemother ; 27(1): 103-106, 2021 Jan.

Article in English | MEDLINE | ID: mdl-32988732

4.

A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.

Kuroda, Yukiko; Matsufuji, Mayumi; Enomoto, Yumi; Osaka, Hitoshi; Takanashi, Jun-Ichi; Yamamoto, Toshiyuki; Numata-Uematsu, Yurika; Tabata, Kenshiro; Kurosawa, Kenji; Inoue, Ken.

Am J Med Genet A ; 191(8): 2245-2248, 2023 08.

Article in English | MEDLINE | ID: mdl-37134193

5.

Electrical impedance tomography for evaluating child respiratory rehabilitation.

Kimura, Sho; Sato, Masahiko; Sano, Kentaro; Shimoyama, Kyohei; Honda, Takafumi; Yasukawa, Kumi; Takanashi, Jun-Ichi.

Pediatr Int ; 65(1): e15572, 2023.

Article in English | MEDLINE | ID: mdl-37428822

6.

Prevalence and characteristics of human parechovirus and enterovirus infection in febrile infants.

Sano, Kentaro; Hamada, Hiromichi; Hirose, Shoko; Sugiura, Kenta; Harada, Satoko; Koizumi, Mai; Hara, Mayumi; Nishijima, Haruna; Taira, Masakatsu; Ogura, Atsushi; Ogawa, Tomoko; Takanashi, Jun-Ichi.

Pediatr Int ; 60(2): 142-147, 2018 Feb.

Article in English | MEDLINE | ID: mdl-29205679

7.

Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.

Iwama, Kazuhiro; Mizuguchi, Takeshi; Takanashi, Jun-Ichi; Shibayama, Hidehiro; Shichiji, Minobu; Ito, Susumu; Oguni, Hirokazu; Yamamoto, Toshiyuki; Sekine, Akiko; Nagamine, Shun; Ikeda, Yoshio; Nishida, Hiroya; Kumada, Satoko; Yoshida, Takeshi; Awaya, Tomonari; Tanaka, Ryuta; Chikuchi, Ryo; Niwa, Hisayoshi; Oka, Yu-Ichi; Miyatake, Satoko; Nakashima, Mitsuko; Takata, Atsushi; Miyake, Noriko; Ito, Shuichi; Saitsu, Hirotomo; Matsumoto, Naomichi.

Clin Genet ; 92(2): 180-187, 2017 Aug.

Article in English | MEDLINE | ID: mdl-28177126

8.

Spontaneous tracheal rupture caused by acute asthma exacerbation.

Asaki, Yumie; Sugiura, Kenta; Yasukawa, Kumi; Hamada, Hiromichi; Takanashi, Jun-Ichi.

Pediatr Int ; 63(12): 1541-1543, 2021 Dec.

Article in English | MEDLINE | ID: mdl-34894381

9.

Disrupted glutamate-glutamine cycle in acute encephalopathy with biphasic seizures and late reduced diffusion.

Takanashi, Jun-Ichi; Mizuguchi, Masashi; Terai, Masaru; Barkovich, A James.

Neuroradiology ; 57(11): 1163-8, 2015 Nov.

Article in English | MEDLINE | ID: mdl-26298309

10.

C5orf42 is the major gene responsible for OFD syndrome type VI.

Lopez, Estelle; Thauvin-Robinet, Christel; Reversade, Bruno; Khartoufi, Nadia El; Devisme, Louise; Holder, Muriel; Ansart-Franquet, Hélène; Avila, Magali; Lacombe, Didier; Kleinfinger, Pascale; Kaori, Irahara; Takanashi, Jun-Ichi; Le Merrer, Martine; Martinovic, Jelena; Noël, Catherine; Shboul, Mohammad; Ho, Lena; Güven, Yeliz; Razavi, Ferechté; Burglen, Lydie; Gigot, Nadège; Darmency-Stamboul, Véronique; Thevenon, Julien; Aral, Bernard; Kayserili, Hülya; Huet, Frédéric; Lyonnet, Stanislas; Le Caignec, Cédric; Franco, Brunella; Rivière, Jean-Baptiste; Faivre, Laurence; Attié-Bitach, Tania.

Hum Genet ; 133(3): 367-77, 2014 Mar.

Article in English | MEDLINE | ID: mdl-24178751

11.

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.

Saitsu, Hirotomo; Osaka, Hitoshi; Sasaki, Masayuki; Takanashi, Jun-Ichi; Hamada, Keisuke; Yamashita, Akio; Shibayama, Hidehiro; Shiina, Masaaki; Kondo, Yukiko; Nishiyama, Kiyomi; Tsurusaki, Yoshinori; Miyake, Noriko; Doi, Hiroshi; Ogata, Kazuhiro; Inoue, Ken; Matsumoto, Naomichi.

Am J Hum Genet ; 89(5): 644-51, 2011 Nov 11.

Article in English | MEDLINE | ID: mdl-22036171

12.

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.

Yoneda, Yuriko; Haginoya, Kazuhiro; Kato, Mitsuhiro; Osaka, Hitoshi; Yokochi, Kenji; Arai, Hiroshi; Kakita, Akiyoshi; Yamamoto, Takamichi; Otsuki, Yoshiro; Shimizu, Shin-ichi; Wada, Takahito; Koyama, Norihisa; Mino, Yoichi; Kondo, Noriko; Takahashi, Satoru; Hirabayashi, Shinichi; Takanashi, Jun-ichi; Okumura, Akihisa; Kumagai, Toshiyuki; Hirai, Satori; Nabetani, Makoto; Saitoh, Shinji; Hattori, Ayako; Yamasaki, Mami; Kumakura, Akira; Sugo, Yoshinobu; Nishiyama, Kiyomi; Miyatake, Satoko; Tsurusaki, Yoshinori; Doi, Hiroshi; Miyake, Noriko; Matsumoto, Naomichi; Saitsu, Hirotomo.

Ann Neurol ; 73(1): 48-57, 2013 Jan.

Article in English | MEDLINE | ID: mdl-23225343

13.

Neurochemistry in shiverer mouse depicted on MR spectroscopy.

Takanashi, Jun-ichi; Nitta, Nobuhiro; Iwasaki, Nobuaki; Saito, Shigeyoshi; Tanaka, Ryuta; Barkovich, A James; Aoki, Ichio.

J Magn Reson Imaging ; 39(6): 1550-7, 2014 Jun.

Article in English | MEDLINE | ID: mdl-24243812

14.

[MRI and CT in the diagnosis of epilepsy].

Takanashi, Jun-ichi.

Nihon Rinsho ; 72(5): 819-26, 2014 May.

Article in Japanese | MEDLINE | ID: mdl-24912281

15.

Factors influencing the development of infantile traumatic brain injury with a biphasic clinical course and late reduced diffusion.

Yasukohchi, Madoka; Omata, Taku; Ochiai, Kenta; Sano, Kentaro; Murofushi, Yuka; Kimura, Sho; Takase, Nanako; Honda, Takafumi; Yasukawa, Kumi; Takanashi, Jun-Ichi.

J Neurol Sci ; 457: 122904, 2024 Feb 15.

Article in English | MEDLINE | ID: mdl-38290378

16.

An Open-Label Administration of Bioavailable-Form Curcumin in Patients With Pelizaeus-Merzbacher Disease.

Yamamoto, Akiyo; Shimizu-Motohashi, Yuko; Ishiyama, Akihiko; Kurosawa, Kenji; Sasaki, Masayuki; Sato, Noriko; Osaka, Hitoshi; Takanashi, Jun-Ichi; Inoue, Ken.

Pediatr Neurol ; 151: 80-83, 2024 Feb.

Article in English | MEDLINE | ID: mdl-38134864

17.

Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study.

Kasai, Mariko; Sakuma, Hiroshi; Abe, Yuichi; Kuki, Ichiro; Maegaki, Yoshihiro; Murayama, Kei; Murofushi, Yuka; Nagase, Hiroaki; Nishiyama, Masahiro; Okumura, Akihisa; Sakai, Yasunari; Tada, Hiroko; Mizuguchi, Masashi; Takanashi, Jun-Ichi.

J Neurol Sci ; 457: 122867, 2024 Feb 15.

Article in English | MEDLINE | ID: mdl-38199023

18.

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Miyake, Noriko; Koshimizu, Eriko; Okamoto, Nobuhiko; Mizuno, Seiji; Ogata, Tsutomu; Nagai, Toshiro; Kosho, Tomoki; Ohashi, Hirofumi; Kato, Mitsuhiro; Sasaki, Goro; Mabe, Hiroyo; Watanabe, Yoriko; Yoshino, Makoto; Matsuishi, Toyojiro; Takanashi, Jun-ichi; Shotelersuk, Vorasuk; Tekin, Mustafa; Ochi, Nobuhiko; Kubota, Masaya; Ito, Naoko; Ihara, Kenji; Hara, Toshiro; Tonoki, Hidefumi; Ohta, Tohru; Saito, Kayoko; Matsuo, Mari; Urano, Mari; Enokizono, Takashi; Sato, Astushi; Tanaka, Hiroyuki; Ogawa, Atsushi; Fujita, Takako; Hiraki, Yoko; Kitanaka, Sachiko; Matsubara, Yoichi; Makita, Toshio; Taguri, Masataka; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Yoshiura, Ko-ichiro; Matsumoto, Naomichi; Niikawa, Norio.

Am J Med Genet A ; 161A(9): 2234-43, 2013 Sep.

Article in English | MEDLINE | ID: mdl-23913813

19.

A child with three episodes of reversible splenial lesion.

Kouga, Takeshi; Iai, Mizue; Yamashita, Sumimasa; Aida, Noriko; Takanashi, Jun-ichi; Osaka, Hitoshi.

Neuropediatrics ; 44(4): 199-202, 2013 Aug.

Article in English | MEDLINE | ID: mdl-23254571

20.

Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.

Okumura, Akihisa; Hayashi, Masaharu; Shimojima, Keiko; Ikeno, Mitsuru; Uchida, Tomohisa; Takanashi, Jun-ichi; Okamoto, Nobuhiko; Hisata, Ken; Shoji, Hiromichi; Saito, Akira; Furukawa, Toru; Kishida, Tetsuko; Shimizu, Toshiaki; Yamamoto, Toshiyuki.

Neuropathology ; 33(5): 553-60, 2013 Oct.

Article in English | MEDLINE | ID: mdl-23240987

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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